Description of the genes involved in primary ciliary dyskinesia(PCD)
| Gene | Locus | Defective structure | Exon | Hot spot | Founder mutation | Phenotype |
| DNAH5 | 5p15 | ODA | 79+1 | Exons 34, 50, 63, 76, 77 | c.10815delT | PCD+KS |
| DNAI1 | 9p21–p13 | ODA | 20 | Exons 13, 16, 17 | IVS1 + 3insT | PCD+KS |
| DNAH11 | 7p15.3–21 | Normal | 82 | Not known | Not known | PCD+KS |
| TXNDC3 | 7p14.1 | ODA | 18 | Not known | Not known | KS |
| DNAI2 | 17q25.1 | ODA | 14 | Not known | Not known | PCD+KS |
| KTU | 14q21.3 | ODA+IDA | 3 | Not known | Not known | PCD+KS |
| RPGR | Xp21.1 | Variable | ∼25 | Not known | Not known | PCD with retinitis pigmentosa |
| OFD1 | Xp22 | Not known | 23 | Not known | Not known | PCD with mental retardation |
| RSPH9 | 6p21 | CP | 5 | Exon 5 | c.801_803delGAA | PCD |
| RSPH4A | 6q22 | CP | 6 | Not known | Not known | PCD |
DNAH5: dynein, axonemal, heavy chain 5 gene; DNAI1: dynein, axonemal, intermediate chain 1 gene; DNAH11: dynein, axonemal, heavy chain 11 gene; TXNDC3: thioredoxin domain containing 3 (spermatozoa) gene; DNAI2: dynein, axonemal, intermediate chain 2 gene; KTU: chromosome 14 open reading frame 104 gene; RPGR: retinitis pigmentosa guanosine triphosphatase regulator gene; OFD1: oral-facial-digital syndrome 1 gene; RSPH9: radial spoke head 9 homologue (Chlamydomonas) gene; RSPH4A: radial spoke head 4 homologue A (Chlamydomonas) gene; ODA: outer dynein arm; IDA: inner dynein arm; CP: central pair; c.: cDNA sequence; del: deletion; T: thymidine; IVS: intervening sequence; ins: insertion; G: guanine; A: adenine; KS: Kartagener’s syndrome.